EN1 (gene)

EN1 (gene)

The EN1 gene, also known as Engrailed-1, is a protein coding gene in humans. It is located on the long (q) arm of chromosome 2 at position 36.3. The EN1 gene is part of the homeobox gene family, which are critical in early embryonic development.

Function

The EN1 gene provides instructions for making a protein that is involved in the development of the central nervous system, particularly the midbrain and cerebellum. This protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

Clinical significance

Mutations in the EN1 gene have been associated with several medical conditions. For instance, a mutation in this gene can lead to Parkinson's disease, a neurodegenerative disorder characterized by tremors, stiffness, and difficulty with balance and coordination.

Research

Research on the EN1 gene is ongoing, with scientists seeking to understand more about its role in human development and disease. Studies have suggested that the EN1 gene may also be involved in the development of certain types of cancer, including breast cancer and prostate cancer.

See also

• Homeobox
• Transcription factor
• Parkinson's disease
• Breast cancer
• Prostate cancer

External links

• EN1 at the National Center for Biotechnology Information